舌神経線維腫と消化管間質腫瘍(GIST)が併存した神経線維腫症1型の1例

DOI
  • 桝井 敦史
    市立伊丹病院歯科口腔外科
  • 太田 嘉幸
    市立伊丹病院歯科口腔外科
  • 金 龍門
    市立伊丹病院歯科口腔外科
  • 今井 智章
    大阪大学大学院歯学研究科顎口腔病因病態制御学講座口腔外科学第二教室
  • 鵜澤 成一
    大阪大学大学院歯学研究科顎口腔病因病態制御学講座口腔外科学第二教室

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タイトル別名
  • A case of Neurofibromatosis type 1 with tongue neurofibroma and Gastrointestinal stromal tumor (GIST)

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Neurofibromatosis type 1 (NF1) has been known as von Recklinghausen’s disease. NF1 is an autosomal dominant disease with café-au-lait spots and neuro­fibromas on the skin and various symptoms of the nerves, bones, eyes, and so on. Gastrointestinal stromal tumor (GIST) is generally defined as a mesenchymal tumor from interstitial cells of Cajal. NF1 is the most common genetic syndrome associated with developing GIST. We describe a case of both GIST and tongue neurofibroma found to be associated with NF1. A 63-year-old woman was referred for preoperative oral examination of GIST. She had noticed a tongue mass several years earlier, but had not felt any pain or problem in her daily life. Histopathological examination showed that both GIST and tongue neurofibroma had no characteristic finding associated with NF1. She turned out to be NF1 from postoperative interviews and general findings.<br>In this case, it was not the tongue neurofibroma that resulted in a diagnosis of NF1; this is important because the recurrence rate and complications may differ depending on whether GIST is associated with NF1. A greater awareness of NF1-related diseases such as GIST would lead to more accurate preoperative diagnosis and treatment of oral lesions.

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